Prenatal-onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation.
Chartier S, Boutaud L, Le Guillou E, Alby C, Billon C, Millischer AE, Caillaud C, Galmiche L, Mechler C, Sonigo P, Boddaert N, Lyonnet S, Rondeau S, Bole-Feysot C, Masson C, Ville Y, Roth P, Desguerre I, Encha-Razavi F, Attie-Bitach T.
Chartier S, et al.
Birth Defects Res. 2021 Nov;113(18):1324-1332. doi: 10.1002/bdr2.1950. Epub 2021 Sep 7.
Birth Defects Res. 2021.
PMID: 34491000
Although they are the first cause of neurodegenerative disorders in children, their congenital forms are rarely documented. They are classically due to mutations in the CTSD gene (the CLN10 disease). Affected newborns usually present severe microcephaly, seizures and respi …
Although they are the first cause of neurodegenerative disorders in children, their congenital forms are rarely documented. They are classic …